title: Clinical utility gene card for: Beckwith-Wiedemann Syndrome.
authors.affiliation: Department of Human Genetics, University Hospital, RWTH Aachen, Aachen, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Eggermann
authors.affiliation: Department of Genetics and Molecular Pathology, Monash Medical Centre, Clayton, Australia.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Algar
authors.affiliation: INGEMM, Instituto de Genética Médica y Molecular, Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCII, Madrid, Spain.
authors.forename: Pablo
authors.initials: P
authors.lastname: Lapunzina
authors.affiliation: Department of Epigenetics, Faculty of Medicine, University of Southampton, Wessex Regional Genetics Laboratory, Salisbury Health Care Trust, Salisbury, UK.
authors.forename: Deborah
authors.initials: D
authors.lastname: Mackay
authors.affiliation: Department of Medical Genetics, University of Cambridge Clinical School, Addenbrooke's Hospital Treatment Centre, Cambridge, UK.
authors.forename: Eamonn R
authors.initials: ER
authors.lastname: Maher
authors.affiliation: Department of Clinical Genetics, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: Marcel
authors.initials: M
authors.lastname: Mannens
authors.affiliation: Hôpital Trousseau, INSERM U938, UPMC, Paris 6, Explorations fonctionnelles endocriniennes, Paris, France.
authors.forename: Irène
authors.initials: I
authors.lastname: Netchine
authors.affiliation: Centre for Paediatric and Adolescent Medicine, University Medical Centre Mainz, Germany.
authors.forename: Dirk
authors.initials: D
authors.lastname: Prawitt
authors.affiliation: Seconda Università degli Studi di Napoli, Institute of Genetics and Biophysics - ABT, Napoli, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Riccio
authors.affiliation: Department of Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
authors.forename: I Karen
authors.initials: IK
authors.lastname: Temple
authors.affiliation: Department of Paediatrics and Genome Biology Program, Hospital for Sick Children and Institute of Medical Science, University of Toronto, Toronto, Canada.
authors.forename: Rosanna
authors.initials: R
authors.lastname: Weksberg
mesh_terms: D001506:Beckwith-Wiedemann Syndrome / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D050761:Cyclin-Dependent Kinase Inhibitor p57 / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007335:Insulin-Like Growth Factor II / Q000235:genetics*; D051657:KCNQ1 Potassium Channel / Q000235:genetics*; D008297:Male; D062085:RNA, Long Noncoding / Q000235:genetics*
chemical_list: C493964:CDKN1C protein, human; D050761:Cyclin-Dependent Kinase Inhibitor p57; C094335:H19 long non-coding RNA; C035170:IGF2 protein, human; D051657:KCNQ1 Potassium Channel; C496909:KCNQ1 protein, human; D062085:RNA, Long Noncoding; D007335:Insulin-Like Growth Factor II